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Cellosaurus ICGi038-A (CVCL_B5EN)

[Text version]
Cell line name ICGi038-A
Synonyms FH 5.1.2Sh
Accession CVCL_B5EN
Resource Identification Initiative To cite this cell line use: ICGi038-A (RRID:CVCL_B5EN)
Comments From: The Federal Research Center Institute of Cytology and Genetics; Novosibirsk; Russia.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6547; LDLR; Simple; c.940+3_940+6delGAGT; ClinVar=VCV000869390; Zygosity=Heterozygous (PubMed=35152178).
  • Mutation; HGNC; 6547; LDLR; Simple; p.Arg416Trp (c.1246C>T); ClinVar=VCV000183110; Zygosity=Heterozygous (PubMed=35152178).
Disease Hyperlipoproteinemia, type IIa (NCIt: C123416)
Homozygous familial hypercholesterolemia (ORDO: Orphanet_391665)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 32Y
Category Induced pluripotent stem cell
Publications

PubMed=35152178; DOI=10.1016/j.scr.2022.102702
Zakharova I.S., Shevchenko A.I., Tmoyan N.A., Elisaphenko E.A., Zubkova E.S., Sleptcov A.A., Nazarenko M.S., Ezhov M.V., Kukharchuk V.V., Parfyonova Y.V., Zakian S.M.
Induced pluripotent stem cell line ICGi038-A, obtained by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia due to compound heterozygous c.1246C > T/c.940 + 3_940 + 6del mutations in LDLR.
Stem Cell Res. 60:102702-102702(2022)

Cross-references
Cell line databases/resources hPSCreg; ICGi038-A
Biological sample resources BioSamples; SAMEA11421032
Encyclopedic resources Wikidata; Q110432915
Entry history
Entry creation16-Dec-2021
Last entry update29-Jun-2023
Version number4